Presents in first weeks of life with vomiting, failure to gain weight due to poor feeding habits, cataracts, jaundice, hypotonia, lethargy, hepatomegaly, encephalopathy, bruising or bleeding, intravenous fluid requirement, and E coli sepsis.
Abnormal findings include increased plasma galactose, increased urine and blood galactitol, increased galactose-1-phosphate in erythrocytes, metabolic acidosis, galactosuria, glycosuria, albuminuria, aminoaciduria, raised plasma amino acids, abnormal liver function tests, and hyperbilirubinemia. If death does not ensue, infants who continue to drink milk that contains lactose will have mental retardation.
There are a wide range of patients with variant forms and partial impairment (2% to 10%) of GALT activity who may express some aspects of the disease including early cataracts, mild mental retardation with ataxia, growth restriction, early menopause or amenorrhea, and dyspraxic speech patterns.
Treatment is to restrict galactose from diet.
Patients with poor dietary compliance may develop cataracts when they are old. Long-term effects include language deficits, lower cognitive functioning, mild retardation, mild to severe ataxia, and impaired visual perception. Females with classic galactosemia present hypergonadotropic hypogonadism. Testicular function in males appears to be unaffected by GALT deficiency. Although dietary restriction prevents neonatal death and enhances growth and development, long-term neurologic effects and primary ovarian failure in females are not always prevented.